RGD:13782562 Rat Genome Database

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Variant: RGD:13782562 -  Homo sapiens

RGD ID: 13782562
RS ID: rs754967473
ClinVar ID: CV548366
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALK1  LOC127887957  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 73,754,353
GRCh38 17 75,758,272
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007372.1:g.41838C>T
NM_000154.1:c.1045G>A
NG_008079.1:g.11928G>A
NC_000017.11:g.75758272C>T
More... 		07/23/2020 missense variant conflicting interpretations of pathogenicity|uncertain significance Galactokinase deficiency with cataracts; Galactosemia 2; GALACTOSEMIA II; Hereditary galactokinase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GALK1
Accession:NM_001381985
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 349
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSE
GADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDS
GTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDYRAFGRLMVESHRSLRDDYEV
SCPELDQLVEAALAVPGVYGSRMTGGGFSGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL*

Gene Symbol:GALK1
Accession:NM_000154
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 349
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSE
GADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDS
GTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDYRAFGRLMVESHRSLRDDYEV
SCPELDQLVEAALAVPGVYGSRMTGGGFSGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL*
Variant Samples
Additional References at PubMed
PMID:10570908   PMID:10790206   PMID:12694189   PMID:21264483   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000669015 CLINVAR
dbSNP (RS) rs754967473 CLINVAR
MedGen C0268155 CLINVAR
NCBI Gene GALK1 CLINVAR
OMIM 230200 CLINVAR
  604313 CLINVAR
SNOMED CT 124302001 CLINVAR